gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00062557 (AMR)
Genomes Max Group AF
0.00027492 (AMR)
Exomes Max Group AF
0.00069564 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107563997G>A , CM000669.2:g.107563997G>A | GRCh38 |
| NC_000007.13:g.107204442G>A , CM000669.1:g.107204442G>A | GRCh37 |
| NC_000007.12:g.106991678G>A | NCBI36 |
| NG_028095.1:g.5518C>T | |
| NG_028095.2:g.5518C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265720.8:c.-323G>A (DUS4L) MANE Select | ENSP00000265720.3:n.-323G>A | |
| ENST00000347053.8:c.-101C>T (COG5) | ENSP00000334703.3:n.-101C>T | |
| ENST00000393603.7:c.-101C>T (COG5) | ENSP00000377228.3:n.-101C>T | |
| ENST00000673665.1:c.-701G>A (DUS4L-BCAP29) | ENSP00000501082.1:n.-701G>A | |
| ENST00000673689.1:c.-606G>A (DUS4L-BCAP29) | ENSP00000501243.1:n.-606G>A | |
| ENST00000673709.1:c.-701G>A (DUS4L-BCAP29) | ENSP00000501046.1:n.-701G>A | |
| ENST00000673720.1:c.-234G>A (DUS4L-BCAP29) | ENSP00000501003.1:n.-234G>A | |
| ENST00000673757.1:c.-323G>A (DUS4L-BCAP29) | ENSP00000501026.1:n.-323G>A | |
| ENST00000673780.1:c.-323G>A (DUS4L-BCAP29) | ENSP00000501094.1:n.-323G>A | |
| ENST00000673784.1:c.-701G>A (DUS4L-BCAP29) | ENSP00000501306.1:n.-701G>A | |
| ENST00000673970.1:c.-361G>A (DUS4L-BCAP29) | ENSP00000501195.1:n.-361G>A | |
| ENST00000673992.1:c.-323G>A (DUS4L-BCAP29) | ENSP00000501193.1:n.-323G>A | |
| ENST00000674049.1:c.-323G>A (DUS4L-BCAP29) | ENSP00000501280.1:n.-323G>A | |
| ENST00000674062.1:c.-361G>A (DUS4L-BCAP29) | ENSP00000501049.1:n.-361G>A | |
| ENST00000265720.7:c.-323G>A (DUS4L) | ENSP00000265720.3:n.-323G>A | |
| ENST00000297135.7:c.-8C>T (COG5) | ENSP00000297135.3:n.-8C>T | |
| ENST00000347053.7:c.-8C>T (COG5) | ENSP00000334703.2:n.-8C>T | |
| ENST00000393603.6:c.-8C>T (COG5) | ENSP00000377228.2:n.-8C>T | |
| ENST00000422290.5:c.-323G>A (DUS4L) | ENSP00000402887.1:n.-323G>A | |
| ENST00000431839.5:c.-173G>A (DUS4L) | ENSP00000388904.1:n.-173G>A | |
| ENST00000443233.5:c.-361G>A (DUS4L) | ENSP00000388061.1:n.-361G>A | |
| ENST00000498786.5:n.263+251G>A (DUS4L) | ||
| NM_001161520.1:c.-8C>T (COG5) | NP_001154992.1:n.-8C>T | |
| NM_001270419.1:c.-173G>A (DUS4L) | NP_001257348.1:n.-173G>A | |
| NM_006348.3:c.-8C>T (COG5) | NP_006339.3:n.-8C>T | |
| NM_181581.2:c.-323G>A (DUS4L) | NP_853559.1:n.-323G>A | |
| NM_181733.2:c.-8C>T (COG5) | NP_859422.2:n.-8C>T | |
| NR_073002.1:n.41G>A (DUS4L) | ||
| NR_073003.1:n.41G>A (DUS4L) | ||
| NR_073004.1:n.41G>A (DUS4L) | ||
| NR_073005.1:n.41G>A (DUS4L) | ||
| XM_006715844.1:c.-323G>A (DUS4L) | XP_006715907.1:n.-323G>A | |
| XM_011515738.1:c.-8C>T (COG5) | XP_011514040.1:n.-8C>T | |
| XM_011515767.1:c.-84G>A (DUS4L) | XP_011514069.1:n.-84G>A | |
| XM_006715844.2:c.-323G>A (DUS4L) | XP_006715907.1:n.-323G>A | |
| XM_006715845.3:c.-234G>A (DUS4L) | XP_006715908.1:n.-234G>A | |
| XM_011515767.2:c.-84G>A (DUS4L) | XP_011514069.1:n.-84G>A | |
| XM_017011709.1:c.-352G>A (DUS4L) | XP_016867198.1:n.-352G>A | |
| XM_017011712.1:c.-113G>A (DUS4L) | XP_016867201.1:n.-113G>A | |
| XM_024446634.1:c.-8C>T (COG5) | XP_024302402.1:n.-8C>T | |
| NM_181581.3:c.-323G>A (DUS4L) MANE Select | NP_853559.1:n.-323G>A | |
| NM_001371364.2:c.-323G>A (DUS4L-BCAP29) | NP_001358293.1:n.-323G>A | |
| NM_001371365.2:c.-361G>A (DUS4L-BCAP29) | NP_001358294.1:n.-361G>A | |
| NM_001371366.2:c.-323G>A (DUS4L-BCAP29) | NP_001358295.1:n.-323G>A | |
| NM_001371367.2:c.-234G>A (DUS4L-BCAP29) | NP_001358296.1:n.-234G>A | |
| NR_163939.2:n.27G>A (DUS4L-BCAP29) | ||
| NR_163940.2:n.27G>A (DUS4L-BCAP29) | ||
| NR_163941.2:n.27G>A (DUS4L-BCAP29) | ||
| NM_001270419.2:c.-173G>A (DUS4L) | NP_001257348.1:n.-173G>A | |
| NR_073002.2:n.27G>A (DUS4L) | ||
| NR_073003.2:n.27G>A (DUS4L) | ||
| NR_073004.2:n.27G>A (DUS4L) | ||
| NR_073005.2:n.27G>A (DUS4L) |